Aimee Hanson

Abstract The theorised risk that confounded rare variant associations will emerge from population based genetic studies has not been investigated empirically. Here, we use 306,991 sequenced exomes from the UK Biobank to demonstrate that recent demography is poorly captured by common and rare variant principal components, and accounting for haplotype sharing does not eliminate false-positive rare variant associations with non-heritable spatially structured traits.

Abstract GWAS have generally focused on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we use whole-genome sequencing data to evaluate the contribution to and architecture of rare non-coding variants for three commonly studied anthropometric traits: height, BMI and waist-hip ratio adjusted for BMI.

1 BACKGROUND Dementia is a devastating neurodegenerative disease currently affecting 50 million people worldwide.1 Although efforts to treat and prevent dementia have been ongoing for years, little progress has been made.1 However, recent research is pointing toward a shared pathogenesis between dementia and atherosclerotic cardiovascular disease.2 Importantly, several shared modifiable risk factors have been suggested, including blood lipids like low-density-lipoprotein (LDL) cholesterol,3...